Showing results (831-840 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|March 17, 2015
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical PhenotypeJ Reunert, A S Lotz-Havla, G Polo, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
JIMD Reports|July 21, 2020
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiencyMaina P Kava, Leah Bryant, Peter Rowe, et al.
JIMD Reports|March 31, 2015
Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase AlfaOzlem Goker-Alpan, Khan Nedd, Suma P Shankar, et al.
JIMD Reports|February 11, 2015
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinaseJosep Oriola, Francisca Moreno, Angel Gutiérrez-Nogués, et al.
JIMD Reports|February 11, 2015
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementationJ Rasmussen, J A Thomsen, J H Olesen, et al.
JIMD Reports|March 28, 2015
Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic ModelAna I Coelho, Matilde Trabuco, Maria João Silva, et al.
JIMD Reports|March 13, 2015
Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked AdrenoleukodystrophyJohann Hofereiter, Matthew D Smith, Jai Seth, et al.
JIMD Reports|March 13, 2015
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial HypobetalipoproteinemiaMasa-Aki Kawashiri, Hayato Tada, Marowa Hashimoto, et al.
JIMD Reports|January 24, 2015
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literatureIsidro Vitoria, Elena Martín-Hernández, Luis Peña-Quintana, et al.
Pageof 127